This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Pearson, G. D. Articles by Dietz, H. C. Search for Related Content PubMed PubMed Citation Articles by Pearson, G. D. Articles by Dietz, H. C. Pubmed/NCBI databases Medline Plus Health Information Ehlers-Danlos Syndrome Marfan Syndrome Related Collections ACE/Angiotension receptors Animal models of human disease AHA Statements and Guidelines Other Vascular biology

(Circulation. 2008;118:785-791.)
© 2008 American Heart Association, Inc.

Special Report

Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on Research in Marfan Syndrome and Related Disorders

Gail D. Pearson, MD, ScD; Richard Devereux, MD; Bart Loeys, MD; Cheryl Maslen, PhD; Dianna Milewicz, MD, PhD; Reed Pyeritz, MD, PhD; Francesco Ramirez, PhD; Daniel Rifkin, PhD; Lynn Sakai, PhD; Lars Svensson, MD, PhD; Andy Wessels, PhD; Jennifer Van Eyk, PhD; Harry C. Dietz, MD

From the National Heart, Lung, and Blood Institute, National Institutes of Health, Division of Cardiovascular Diseases (G.P.), Bethesda, Md; Weill Cornell Medical Center (R.D.), New York, NY; University of Gent (B.L.), Ghent, Belgium; Oregon Health & Science University (C.M.), Portland, Ore; University of Texas Medical School at Houston (D.M.); University of Pennsylvania School of Medicine (R.P.), Philadelphia, Pa; Mount Sinai School of Medicine (F.R.), New York, NY; New York University School of Medicine (D.R.), New York, NY; Shriners Hospital for Children (L. Sakai), Portland, Ore; Cleveland Clinic (L. Svensson), Cleveland, Ohio; Medical University of South Carolina (A.W.), Charleston, SC; Johns Hopkins University–Bayview Proteomics Center (J.V.E.), Baltimore, Md; and Howard Hughes Medical Institute, Johns Hopkins University School of Medicine (H.D.), Baltimore, Md.

Correspondence to Gail Pearson, MD, ScD, National Heart, Lung, and Blood Institute, National Institutes of Health, Division of Cardiovascular Diseases, 6701 Rockledge Dr, Room 8104, Bethesda MD 20892. E-mail pearsong@mail.nih.gov

Key Words: aortic aneurysm • Marfan syndrome • research

An extract of the first 250 words of the full text is provided, because this article has no abstract.

	Introduction

 
Aortic aneurysm and dissection is a common phenotype, accounting for 1% to 2% of all deaths in industrialized countries and 50 000 deaths annually in the United States.¹ In contrast to abdominal aortic aneurysm, thoracic aortic aneurysm, particularly in the ascending segment, commonly occurs in young individuals in the absence of identifiable environmental risk factors. Marfan syndrome (MFS) is the most common syndromic presentation of ascending aortic aneurysm, but other syndromes such as vascular Ehlers-Danlos syndrome and Loeys-Dietz syndrome (LDS) also have ascending aortic aneurysms and the associated cardiovascular risk of aortic dissection and rupture. Familial segregation of the risk for ascending aortic aneurysm can also occur in the absence of associated systemic findings of a connective tissue abnormality in patients with familial thoracic aortic aneurysm and dissection (FTAAD) or bicuspid aortic valve with ascending aortic aneurysm (BAV/AscAA). The knowledge gained through basic and clinical research focused on MFS has improved and will continue to improve the care of patients with these related conditions.

Recent paradigm-shifting discoveries about the molecular pathogenesis of MFS have highlighted the need for a focused research agenda to solidify the gains of the past 30 years and set the stage for future advances in MFS and related conditions. In April 2007, the National Heart, Lung, and Blood Institute (NHLBI) and the National Marfan Foundation convened a working group on research in MFS and related disorders to foster a multidisciplinary discussion. The working group, which included experts in cardiovascular disease, developmental biology, genetics and genomics, and . . . [Full Text of this Article]

This article has been cited by other articles:

				P. Matt, F. Schoenhoff, J. Habashi, T. Holm, C. Van Erp, D. Loch, O. D. Carlson, B. F. Griswold, Q. Fu, J. De Backer, et al. Circulating Transforming Growth Factor-{beta} in Marfan Syndrome Circulation, August 11, 2009; 120(6): 526 - 532. [Abstract] [Full Text] [PDF]